ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3468T>C (p.His1156=)

gnomAD frequency: 0.00006  dbSNP: rs769984503
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520050 SCV001729047 benign not provided 2024-02-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826379 SCV002083660 likely benign X-linked Alport syndrome 2020-03-10 no assertion criteria provided clinical testing

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